Product Details

SNP ID
rs145104347
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:66444370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAACCTTTTTATTTTTTTCAGATG[C/G]CTGTTTCAAATATTAGATATGGAGC
Phenotype
MIM: 611083
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ADHFE1 PubMed Links

Gene Details

Gene
ADHFE1
Gene Name
alcohol dehydrogenase, iron containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144650.2 182 Missense Mutation CCT,GCT P50A NP_653251.2

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